NM_006343.3(MERTK):c.2608G>A (p.Val870Ile) AND Retinal dystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Oct 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003888501.1
Allele description [Variation Report for NM_006343.3(MERTK):c.2608G>A (p.Val870Ile)]
NM_006343.3(MERTK):c.2608G>A (p.Val870Ile)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
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Ptp4a3 AND (alive[prop]) (617)
Gene
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Last Updated: Oct 8, 2024